Author

Tjitske Kleefstra

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Open access Aug 2026

Genome sequencing reveals high diagnostic yield in children with severe sporadic developmental language disorder.

A high prevalence of rare (mainly de novo) genetic variants in individuals with severe and sporadic DLD is revealed, and extensive molecular overlap with other neurodevelopmental disorders is demonstrated.

Milou G. P. Kennis, Leenke van Haaften, Karen van Hulst et al. · European Journal of Human Ge... · 0 citations

Open access Jun 2026

A role for EHMT2 in a novel autosomal recessive neurodevelopmental syndrome? A case report

A role for EHMT2 in an autosomal recessive neurodevelopmental disorder is supported and anticipatory guidance for the patient’s family is allowed.

D. Rots, B. C. D. de Oliveira, L. M. L. Carvalho et al. · Frontiers in Genetics · 0 citations